Gerard Pujol-Munoz
Barcelona, CT 08028, Spain
Last Updated: 09/26/2026
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Found 8 publications
Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome.
Journal: Mitochondrion
Published: July 29, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Journal: Brain communications
Published: January 13, 2025
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Journal: Molecular genetics and metabolism
Published: February 23, 2024
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
Journal: Journal of inherited metabolic disease
Published: July 08, 2023
Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
Journal: International journal of molecular sciences
Published: July 05, 2023
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
Journal: International journal of molecular sciences
Published: September 09, 2022
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Journal: Brain pathology (Zurich, Switzerland)
Published: August 22, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Journal: Genome medicine
Published: May 17, 2021
Showing 1-8 of 8
Last Updated: 09/26/2026